Hadil Kathom

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 117 citations · Full text

Synaptic Plasticity, Molecular Neuroscience, Developmental Biology +12

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca et al. · Genetics in Medicine · 2022 · 16 citations · Full text

First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

Daniela Avdjieva-Tzavella, M. Ivanova, A. Todorova et al. · PubMed · 2014 · 12 citations

Recurrent Mutation, Genetics, Genetic Epidemiology +17

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

Daniela Avdjieva-Tzavella, A. Todorova, Hadil Kathom et al. · PubMed · 2018 · 12 citations